Details of RareLED ID 2013 |
Primary information | |
---|---|
ID | 2013 |
Disorder | Mucopolysaccharidosis 6 (MPS6)/MAROTEAUXLAMY SYNDROME |
Inheritance | Autosomal recessive |
Organ Affected | Ear,Eye,Heart,Bones,Liver,Spleen,Hair,Head,Nervous System |
Onset | Early Adult (both) |
Genotype-Phenotype Correlation | p.Y251X: severe phenotype (Saudi Arabia), p.H178L is a common founder mutation found in Brazil, p.Y251X and c270_274del5bp pc.91Afs*34 genotypes , in consanguineous cases followed the rapidly severe phenotype. Cardiac involvement : p.R152W mutation in the ARSB gene. |
Refrences | 28914427 |